Absence of Lamin A/C Gene Mutations in Four Wiedemann-Rautenstrauch Syndrome Patients

被引:16
|
作者
Morales, Luis C. [2 ]
Arboleda, Gonzalo [2 ,3 ,4 ]
Rodriguez, Yeldy [2 ]
Forero, Diego A. [2 ]
Ramirez, Nelson [2 ]
Yunis, Juan J. [2 ,3 ,4 ]
Arboleda, Humberto [1 ,2 ,5 ]
机构
[1] Univ Nacl Colombia, Inst Genet, Grp Neurociencias, Bogota, Colombia
[2] Univ Nacl Colombia, Programa Maestria Neurociencias, Bogota, Colombia
[3] Univ Nacl Colombia, Dept Patol, Bogota, Colombia
[4] Univ Nacl Colombia, Grp Patol Mol, Bogota, Colombia
[5] Univ Nacl Colombia, Fac Med, Dept Pediat, Bogota, Colombia
关键词
neonatal progeria; Wiedemann-Rautenstrauch syndrome; Lamin A/C; sequence; NEONATAL PROGEROID SYNDROME; BODY-FAT DISTRIBUTION; KUGELKERN; ZMPSTE24; LMNA;
D O I
10.1002/ajmg.a.33090
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
The Wiedemann-Rautenstrauch syndrome (WRS, OMIM: 264090) characterizes a premature aging syndrome in which several features of aging are apparent at birth. We did not find mutations in Lamin A/C (LMNA) gene in four WRS patients, and in particular, we did not find the G608G mutation (GGC > GGT transition) which is associated with most cases with Hutchinson-Gilford progeria (OMIM 176670). These findings suggest that WRS represents a distinct progeroid entity that may be caused by recessive mutations of a different gene. (C) 2009 Wiley-Liss, Inc.
引用
收藏
页码:2695 / 2699
页数:5
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